E402K (p.Glu402Lys) variant of SATB2 (DNA-binding protein SATB2)
E402K (p.Glu402Lys) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements, published literature, and structural context.
E402K (p.Glu402Lys) variant details
- p.Glu402Lys
- rs2468868479
- ClinGen CA350386528
- ClinVar RCV002651587
- ClinVar RCV004721126
- Pathogenic
- not provided; Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (not provided; Chromosome 2q32-q33 deletion syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SATB2 CUT domain domainome 1.0: score -0.15
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)